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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

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Published on: December 20, 2017

Fabry disease.

Dominique P Germain1

  • 1University of Versailles - St Quentin en Yvelines, Faculté de Médecine Paris - Ile de France Ouest (PIFO), 78035 Versailles, France. dominique.germain@rpc.aphp.fr

Orphanet Journal of Rare Diseases
|November 25, 2010
PubMed
Summary
This summary is machine-generated.

Fabry disease is an inherited metabolic disorder caused by alpha-galactosidase A deficiency, leading to organ damage. Enzyme replacement therapy offers a treatment option, with ongoing research for oral therapies.

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Published on: March 23, 2022

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Metabolic pathways

Background:

  • Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism.
  • Caused by deficient or absent lysosomal α-galactosidase A activity, leading to globotriaosylceramide accumulation.
  • Affects multiple organ systems, including neurological, renal, and cardiovascular systems.

Purpose of the Study:

  • To summarize the understanding of Fabry disease pathophysiology.
  • To outline diagnostic methods for hemizygous males and heterozygous females.
  • To review current and emerging therapeutic strategies for Fabry disease.

Main Methods:

  • Diagnosis relies on demonstrating α-galactosidase A deficiency.
  • Molecular testing (genotyping) is mandatory for females due to inconclusive enzyme analysis.
  • Prenatal and pre-implantation diagnostics are available.

Main Results:

  • Classically affected males exhibit a wide range of symptoms, while females show variable severity.
  • Progressive organ damage, including end-stage renal disease and cardiovascular complications, reduces life expectancy.
  • Enzyme replacement therapy (ERT) with recombinant human α-galactosidase A is available.

Conclusions:

  • Early diagnosis and intervention are crucial for managing Fabry disease.
  • Long-term enzyme therapy can potentially halt disease progression.
  • Research is advancing towards oral therapies and improved management strategies.